HHML
MCID: HMH003
MIFTS: 21

Hemihyperplasia-Multiple Lipomatosis Syndrome (HHML)

Categories: Cardiovascular diseases, Fetal diseases, Rare diseases, Skin diseases

Aliases & Classifications for Hemihyperplasia-Multiple Lipomatosis Syndrome

MalaCards integrated aliases for Hemihyperplasia-Multiple Lipomatosis Syndrome:

Name: Hemihyperplasia-Multiple Lipomatosis Syndrome 58
Hhml 58

Characteristics:

Orphanet epidemiological data:

58
hemihyperplasia-multiple lipomatosis syndrome
Inheritance: Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

Classifications:

Orphanet: 58  
Rare circulatory system diseases
Rare skin diseases
Developmental anomalies during embryogenesis


Summaries for Hemihyperplasia-Multiple Lipomatosis Syndrome

MalaCards based summary : Hemihyperplasia-Multiple Lipomatosis Syndrome, also known as hhml, is related to pik3ca-related overgrowth spectrum and lipomatosis. An important gene associated with Hemihyperplasia-Multiple Lipomatosis Syndrome is PIK3CA (Phosphatidylinositol-4,5-Bisphosphate 3-Kinase Catalytic Subunit Alpha). Affiliated tissues include testis and kidney, and related phenotypes are overgrowth and abnormality of the cerebral vasculature

Wikipedia : 73 Hemihyperplasia-multiple lipomatosis syndrome is a cutaneous condition characterized by multiple lipomas... more...

Related Diseases for Hemihyperplasia-Multiple Lipomatosis Syndrome

Diseases related to Hemihyperplasia-Multiple Lipomatosis Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 pik3ca-related overgrowth spectrum 11.3
2 lipomatosis 10.5
3 overgrowth syndrome 10.4
4 proteus syndrome 10.1
5 scoliosis 10.1
6 hydrocephalus 10.1

Graphical network of the top 20 diseases related to Hemihyperplasia-Multiple Lipomatosis Syndrome:



Diseases related to Hemihyperplasia-Multiple Lipomatosis Syndrome

Symptoms & Phenotypes for Hemihyperplasia-Multiple Lipomatosis Syndrome

Human phenotypes related to Hemihyperplasia-Multiple Lipomatosis Syndrome:

58 31 (show all 19)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 overgrowth 58 31 obligate (100%) Obligate (100%) HP:0001548
2 abnormality of the cerebral vasculature 58 31 frequent (33%) Frequent (79-30%) HP:0100659
3 macrodactyly 58 31 frequent (33%) Frequent (79-30%) HP:0004099
4 scoliosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002650
5 microtia 58 31 occasional (7.5%) Occasional (29-5%) HP:0008551
6 lipoatrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0100578
7 nevus 58 31 occasional (7.5%) Occasional (29-5%) HP:0003764
8 multiple lipomas 58 31 occasional (7.5%) Occasional (29-5%) HP:0001012
9 telangiectasia of the skin 58 31 occasional (7.5%) Occasional (29-5%) HP:0100585
10 abnormality of the lymphatic system 58 31 occasional (7.5%) Occasional (29-5%) HP:0100763
11 seborrheic dermatitis 58 31 occasional (7.5%) Occasional (29-5%) HP:0001051
12 foot polydactyly 58 31 occasional (7.5%) Occasional (29-5%) HP:0001829
13 enlarged kidney 58 31 occasional (7.5%) Occasional (29-5%) HP:0000105
14 abnormal venous morphology 58 31 occasional (7.5%) Occasional (29-5%) HP:0002624
15 hydrocele testis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000034
16 ovarian serous cystadenoma 58 31 occasional (7.5%) Occasional (29-5%) HP:0012887
17 2-4 toe syndactyly 58 31 occasional (7.5%) Occasional (29-5%) HP:0010714
18 hyperparakeratosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0040009
19 nephroblastoma 58 31 very rare (1%) Very rare (<4-1%) HP:0002667

Drugs & Therapeutics for Hemihyperplasia-Multiple Lipomatosis Syndrome

Search Clinical Trials , NIH Clinical Center for Hemihyperplasia-Multiple Lipomatosis Syndrome

Genetic Tests for Hemihyperplasia-Multiple Lipomatosis Syndrome

Anatomical Context for Hemihyperplasia-Multiple Lipomatosis Syndrome

MalaCards organs/tissues related to Hemihyperplasia-Multiple Lipomatosis Syndrome:

40
Testis, Kidney

Publications for Hemihyperplasia-Multiple Lipomatosis Syndrome

Articles related to Hemihyperplasia-Multiple Lipomatosis Syndrome:

# Title Authors PMID Year
1
In vitro efficacy of ARQ 092, an allosteric AKT inhibitor, on primary fibroblast cells derived from patients with PIK3CA-related overgrowth spectrum (PROS). 61
29549527 2018
2
[PIK3CA-related overgrowth syndrome (PROS)]. 61
28577738 2017
3
PIK3CA-related overgrowth spectrum (PROS): diagnostic and testing eligibility criteria, differential diagnosis, and evaluation. 61
25557259 2015
4
Molecular and Functional Characterization of Three Different Postzygotic Mutations in PIK3CA-Related Overgrowth Spectrum (PROS) Patients: Effects on PI3K/AKT/mTOR Signaling and Sensitivity to PIK3 Inhibitors. 61
25915946 2015
5
Clinical delineation and natural history of the PIK3CA-related overgrowth spectrum. 61
24782230 2014
6
Two cases of hemihyperplasia-multiple lipomatosis syndrome and review of asymmetric hemihyperplasia syndromes. 61
23458125 2014
7
Hemihyperplasia-multiple lipomatosis syndrome associated with hydrocephalus. 61
25365846 2014
8
Hemihyperplasia-multiple lipomatosis syndrome: an underdiagnosed entity in children with asymmetric overgrowth. 61
20105568 2010
9
Tumescent liposuction in the treatment of hemihyperplasia multiple lipomatosis syndrome. 61
19438675 2009
10
Hemihyperplasia-multiple lipomatosis syndrome (HHML): a challenge in spinal care. 61
19058713 2008

Variations for Hemihyperplasia-Multiple Lipomatosis Syndrome

Expression for Hemihyperplasia-Multiple Lipomatosis Syndrome

Search GEO for disease gene expression data for Hemihyperplasia-Multiple Lipomatosis Syndrome.

Pathways for Hemihyperplasia-Multiple Lipomatosis Syndrome

GO Terms for Hemihyperplasia-Multiple Lipomatosis Syndrome

Sources for Hemihyperplasia-Multiple Lipomatosis Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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